Associated Papers
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation.
Zhang QH et al.
Bmc Medical Genomics, 2022
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
Dan S et al.
Plos One, 2016
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia.
Wang D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.
Zhang G et al.
Human Genomics, 2011
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.
Miyake A et al.
Journal of Human Genetics, 2008
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Rossi A et al.
Human Mutation, 2001
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
Hästbacka J et al.
European Journal of Human Genetics : Ejhg, 1999
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.
Cai G et al.
American Journal of Medical Genetics, 1998
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A et al.
American Journal of Medical Genetics, 1996
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype.
Aigner T et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0